Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, +234

The American Journal of Human Genetics

Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder +8

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano, +66

Nature Communications

The value of sleep recording in evaluating somnambulism in young adults

Ilan Blatt, Ron Peled, Natan Gadoth, +1

Electroencephalography and Clinical Neurophysiology

Sleep DisordersSleepYoung AdultsSleep DisorderPsychiatry +10

Features associated with epilepsy in the antiphospholipid syndrome.

Yehuda Shoenfeld, Shaul Lev, Ilan Blatt, +29

PubMed

Autosomal recessive form of periventricular heterotopia

Volney Sheen, Meral Topçu, Samuel F. Berkovic, +7

Neurology

Quality of life in seizure-free patients with epilepsy on monotherapy

Eitan Auriel, Hagay Landov, Ilan Blatt, +8

Epilepsy & Behavior

Quality Of LifePsychiatryClinical PsychologyRehabilitationNeurology +2

Oligohydrosis and Hyperthermia: Pilot Study of a Novel Topiramate Adverse Effect

Bruria Ben‐Zeev, Nathan Watemberg, Arie Augarten, +5

Journal of Child Neurology

Thrombin regulation of synaptic transmission: Implications for seizure onset

Nicola Maggio, Carlo Cavaliere, Michèle Papa, +3

Neurobiology of Disease

Synaptic PlasticityNeurophysiologySynaptic TransmissionNeurological FunctionNeurotransmission +5

Thrombin regulation of synaptic plasticity: Implications for physiology and pathology

Nicola Maggio, Zeev Itsekson, Dan Dominissini, +5

Experimental Neurology

Synaptic PlasticitySignal TransductionMolecular PhysiologyNeurophysiologyCell Signaling +11

Novel pathogenic mutations and copy number variations in the <i>VPS13A</i> Gene in patients with chorea‐acanthocytosis

Akiyuki Tomiyasu, Masayuki Nakamura, Mio Ichiba, +31

American Journal of Medical Genetics Part B Neuropsychiatric Genetics